MCID: SCL050
MIFTS: 13

Scoliosis, Arachnodactyly, and Blindness

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Scoliosis, Arachnodactyly, and Blindness

MalaCards integrated aliases for Scoliosis, Arachnodactyly, and Blindness:

Name: Scoliosis, Arachnodactyly, and Blindness 57
Blindness-Scoliosis-Arachnodactyly Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
blindness-scoliosis-arachnodactyly syndrome
Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

OMIM 57 612445
UMLS via Orphanet 73 C2676234
Orphanet 59 ORPHA171844
MedGen 42 C2676234

Summaries for Scoliosis, Arachnodactyly, and Blindness

MalaCards based summary : Scoliosis, Arachnodactyly, and Blindness, is also known as blindness-scoliosis-arachnodactyly syndrome. Affiliated tissues include eye, and related phenotypes are scoliosis and blindness

More information from OMIM: 612445

Related Diseases for Scoliosis, Arachnodactyly, and Blindness

Symptoms & Phenotypes for Scoliosis, Arachnodactyly, and Blindness

Human phenotypes related to Scoliosis, Arachnodactyly, and Blindness:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002650
2 blindness 59 32 hallmark (90%) Very frequent (99-80%) HP:0000618
3 visual loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0000572
4 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
5 cataract 59 32 frequent (33%) Frequent (79-30%) HP:0000518
6 abnormality of retinal pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007703
7 retinal detachment 59 32 frequent (33%) Frequent (79-30%) HP:0000541
8 lens subluxation 59 32 frequent (33%) Frequent (79-30%) HP:0001132
9 esotropia 59 32 frequent (33%) Frequent (79-30%) HP:0000565
10 microphakia 59 32 frequent (33%) Frequent (79-30%) HP:0012376
11 strabismus 59 Frequent (79-30%)

Clinical features from OMIM:

612445

Drugs & Therapeutics for Scoliosis, Arachnodactyly, and Blindness

Search Clinical Trials , NIH Clinical Center for Scoliosis, Arachnodactyly, and Blindness

Genetic Tests for Scoliosis, Arachnodactyly, and Blindness

Anatomical Context for Scoliosis, Arachnodactyly, and Blindness

MalaCards organs/tissues related to Scoliosis, Arachnodactyly, and Blindness:

41
Eye

Publications for Scoliosis, Arachnodactyly, and Blindness

Articles related to Scoliosis, Arachnodactyly, and Blindness:

# Title Authors PMID Year
1
Scoliosis, blindness and arachnodactyly in a large Turkish family: is it a new syndrome? 8
18990988 2008
2
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome. 38
26657231 2015

Variations for Scoliosis, Arachnodactyly, and Blindness

Expression for Scoliosis, Arachnodactyly, and Blindness

Search GEO for disease gene expression data for Scoliosis, Arachnodactyly, and Blindness.

Pathways for Scoliosis, Arachnodactyly, and Blindness

GO Terms for Scoliosis, Arachnodactyly, and Blindness

Sources for Scoliosis, Arachnodactyly, and Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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